A case of severe mental and developmental retardation associated with 14q terminal monosomy/5q terminal trisomy.

I previously described the case of a 19 year-old female with severe mental retardation, developmental retardation, microcephalus, short stature, bilateral microphthalmia, ptosis and blepharophimosis(1). Now, I present clinical descriptions of her half-siblings, who have a different father. Subtelomeric fluorescence in situ hybridization (FISH) analysis of the proband demonstrated 5q terminal trisomy and 14q terminal monosomy.

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and the gene was renamed subsequently 'MLC1'. A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLC1 gene, was described.

[Mortality patterns of non-institutionalized severely retarded children in Tokyo--the third report 1999-2001].

We investigated mortality patterns of severely retarded children who were cared at their homes in Tokyo ten years after our first report. During the past two and a half years (from April 1999 to September 2001), we identified 41 fatal cases. The annual case fatality rate (the mortality rate among the investigated children) was 8.

[Clinico-etiological study of forty-five cases of children with severe motor and intellectual disabilities of postnatal origin].

The aim of this study is to analyze causes of severe brain damages of postnatal origin in children and to search for strategies to prevent them. The patients group consists of forty-five children with severe motor and intellectual disabilities sampled at several hospitals and special schools in a part of Tokyo. Twenty-four out of 45 cases (53%) were due to infectious diseases of the central nervous system (meningitis, encephalitis, and acute encephalopathy including Reye syndrome).